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一名13岁女孩患纤维发育不良并伴有面部肿胀和颅面畸形的罕见病例。

A Rare Case of Fibrous Dysplasia Presenting With Facial Swelling and Craniofacial Deformity in a 13-Year-Old Girl.

作者信息

Dhabalia Rishabh, Kashikar Shivali V, Parihar Pratapsingh, Naseri Suhit

机构信息

Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

Radiology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

出版信息

Cureus. 2024 Apr 29;16(4):e59327. doi: 10.7759/cureus.59327. eCollection 2024 Apr.

DOI:10.7759/cureus.59327
PMID:38817487
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11137432/
Abstract

Fibrous dysplasia (FD) is a rare benign skeletal disorder that replaces normal bone with fibrous tissue and immature woven bone. We present a case of a 13-year-old girl with right-sided facial swelling and craniofacial deformity since birth, accompanied by nasal obstruction and difficulty in breathing and swallowing. Computed tomography (CT) imaging revealed an expansile bony lesion with a ground-glass matrix involving multiple craniofacial bones. Histopathological examination confirmed the diagnosis of FD. Management involved regular monitoring and conservative measures, with surgical intervention reserved for symptomatic progression or cosmetic concerns. This case underscores the importance of considering FD in the differential diagnosis of craniofacial asymmetry and highlights the collaborative approach to patient care. Further research is needed to optimize management strategies and outcomes for pediatric patients with FD.

摘要

纤维发育不良(FD)是一种罕见的良性骨骼疾病,其特征是正常骨组织被纤维组织和未成熟的编织骨所替代。我们报告一例13岁女孩,自出生以来右侧面部肿胀并伴有颅面畸形,同时伴有鼻塞、呼吸和吞咽困难。计算机断层扫描(CT)成像显示一个膨胀性骨病变,其磨玻璃样基质累及多块颅面骨。组织病理学检查确诊为FD。治疗包括定期监测和保守措施,手术干预仅用于症状进展或出于美容考虑的情况。该病例强调了在颅面不对称的鉴别诊断中考虑FD的重要性,并突出了患者护理的协作方法。需要进一步研究以优化FD患儿的管理策略和治疗效果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/11137432/0d16c5e4358e/cureus-0016-00000059327-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/11137432/54da2d0aa93b/cureus-0016-00000059327-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/11137432/0d16c5e4358e/cureus-0016-00000059327-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/11137432/54da2d0aa93b/cureus-0016-00000059327-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/11137432/0d16c5e4358e/cureus-0016-00000059327-i02.jpg

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本文引用的文献

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Surgical management of syndromic versus non-syndromic craniofacial fibrous dysplasia: a systematic review and meta-analysis.综合征型与非综合征型颅面骨纤维结构不良的手术治疗:系统评价和荟萃分析。
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Normal vision despite narrowing of the optic canal in fibrous dysplasia.骨纤维异常增殖症中视神经管狭窄但视力正常。
N Engl J Med. 2002 Nov 21;347(21):1670-6. doi: 10.1056/NEJMoa020742.